Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism
Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism
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PARK2、PARK6、PARK7连锁常染色体隐性遗传早发性帕金森病的临床特征及[11C]-CFT PET分析
DOI：
10.1007/s10072-010-0360-z
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发表时间：
2011-02-01
影响因子：
3.3
通讯作者：
Tang, Bei-sha
中科院分区：
文献类型：
--
作者：
Guo, Ji-feng;Wang, Lei;Tang, Bei-sha
Parkin、PINK 1和DJ-1基因突变可引起常染色体隐性遗传早发性帕金森综合征。我们用多巴胺转运体配体[11 C]-CFT正电子发射断层扫描技术研究了Parkin、PINK 1和DJ-1基因突变的三个家系。在所有这些患者中发现双侧和不对称的[11 C]-CFT摄取明显减少，并且壳核和尾状核受到影响。我们还发现无症状的Parkin和PINK 1杂合子的[11 C]-CFT摄取有轻微但显著的减少，而DJ-1-杂合子没有发现这种现象。我们的研究结果表明，这三种常染色体隐性遗传形式的早发性帕金森病在病理生理基础上彼此相似，在帕金森病和PINK 1-杂合子中是一种亚临床疾病过程，而在DJ-1-杂合子中则不是。
Mutations in theParkin,PINK1, andDJ-1genes can cause autosomal recessive early onset Parkinsonism. We studied three families with the mutations of theParkin,PINK1andDJ-1genes, respectively, with a dopamine transporter ligand [11C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [11C]-CFT uptake was found in all these patients, and putamen as well as caudate nucleus was affected. We also found asymptomaticParkinandPINK1heterozygotes showed a mild but significant decrement in [11C]-CFT uptake, but this phenomenon was not found in theDJ-1-heterozygotes. Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process inParkinandPINK1-heterozygotes, but not inDJ-1-heterozygotes.